Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxi...

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Detalles Bibliográficos
Autores principales: Sevin, Caroline, Ferdinandusse, Sacha, Waterham, Hans R, Wanders, Ronald J, Aubourg, Patrick
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617/
https://www.ncbi.nlm.nih.gov/pubmed/21392394
http://dx.doi.org/10.1186/1750-1172-6-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617/
https://www.ncbi.nlm.nih.gov/pubmed/21392394
http://dx.doi.org/10.1186/1750-1172-6-8

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